Aromatic L-amino acid decarboxylase deficiency is an autosomal recessive disorder that results in a lack of
neurotransmitters including
serotonin,
dopamine,
noradrenaline and
adrenaline. It is characterised by developmental delay, severe
hypotonia and autonomic disturbance. In patients with this condition,
catecholamine deficiency and autonomic dysfunction, resulting in haemodynamic instability under anaesthesia is a primary concern. There is increased sensitivity to exogenous
catecholamines and indirect acting agents, such as
ephedrine, are ineffective. Hypoglycaemia, difficult airway status and drug interactions such as with
monoamine oxidase inhibitors are also of concern, and these patients are at risk of dystonic crises peri-operatively. A 6-year-old boy with
aromatic L-amino acid decarboxylase deficiency presented for gastrointestinal endoscopy. Following multidisciplinary discussion, we elected to provide general anaesthesia with a
propofol target-controlled infusion, which proceeded without incident. In this report, we describe the precautions taken in this case, and discuss the provision of general anaesthesia for children with rare neurometabolic disorders.